Incidental Mutation 'IGL00824:Paqr7'
ID12906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Paqr7
Ensembl Gene ENSMUSG00000037348
Gene Nameprogestin and adipoQ receptor family member VII
Synonyms2310021M12Rik, mPR, Mpra, PGLP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00824
Quality Score
Status
Chromosome4
Chromosomal Location134496697-134510235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134506967 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 45 (Y45C)
Ref Sequence ENSEMBL: ENSMUSP00000122936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081525] [ENSMUST00000095074] [ENSMUST00000105866] [ENSMUST00000125330] [ENSMUST00000134506] [ENSMUST00000136171]
Predicted Effect probably damaging
Transcript: ENSMUST00000081525
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080240
Gene: ENSMUSG00000037348
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:HlyIII 65 289 7.1e-52 PFAM
transmembrane domain 314 336 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095074
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125932
Gene: ENSMUSG00000037348
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:HlyIII 65 289 2.4e-45 PFAM
transmembrane domain 314 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105866
SMART Domains Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521

DomainStartEndE-ValueType
Pfam:AIB 26 335 1.5e-134 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125330
AA Change: Y45C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116485
Gene: ENSMUSG00000037348
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:HlyIII 65 147 3.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134506
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120959
Gene: ENSMUSG00000037348
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:HlyIII 65 127 4.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136171
AA Change: Y45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122936
Gene: ENSMUSG00000037348
AA Change: Y45C

DomainStartEndE-ValueType
Pfam:HlyIII 65 237 1.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155449
Meta Mutation Damage Score 0.6957 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Cyp2j5 A G 4: 96,663,923 F30L probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Osbpl2 G A 2: 180,150,267 V255M probably benign Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Sypl T A 12: 32,965,506 probably benign Het
Tmco3 T A 8: 13,292,825 V187E probably damaging Het
Trmt2b T C X: 134,267,405 I47M possibly damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P probably damaging Het
Other mutations in Paqr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02418:Paqr7 APN 4 134506973 missense probably damaging 1.00
R1301:Paqr7 UTSW 4 134507813 missense probably damaging 1.00
R1763:Paqr7 UTSW 4 134507098 missense probably benign 0.10
R1781:Paqr7 UTSW 4 134507281 splice site probably null
R1852:Paqr7 UTSW 4 134507669 missense probably benign 0.23
R4843:Paqr7 UTSW 4 134506967 missense probably damaging 1.00
R5931:Paqr7 UTSW 4 134507720 missense probably damaging 0.99
R6426:Paqr7 UTSW 4 134506967 missense probably damaging 1.00
R7337:Paqr7 UTSW 4 134507120 missense probably benign 0.01
R8103:Paqr7 UTSW 4 134507510 missense probably benign 0.00
Posted On2012-12-06